ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1188G>A (p.Ala396=)

gnomAD frequency: 0.00004  dbSNP: rs371355447
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000389883 SCV000339362 uncertain significance not provided 2016-02-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000816956 SCV000957487 likely benign Familial hemophagocytic lymphohistiocytosis 5 2024-01-25 criteria provided, single submitter clinical testing

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